Varaico: Literature-Extracted Genetic Variants

Gene:SPNS2
Variant:p.T322M
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SPNS2

NM_001124758.3:p.T322M

Associated Papers

Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models.

Ha HT et al.

Jci Insight, 2024

38451736 (PubMed )
Supplement: jciinsight-9-175462-s107.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."